Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism.

@article{Kaufman2016DeletionOT,
  title={Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism.},
  author={Carolyn S Kaufman and Ann Genovese and Merlin G Butler},
  journal={Cytogenetic and genome research},
  year={2016},
  volume={150 2},
  pages={106-111}
}
Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidated for these deletions, and it remains unclear which… CONTINUE READING